Incidental Mutation 'R6280:Resf1'
| ID |
507897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
044450-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149228555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 534
(S534P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046689]
[ENSMUST00000100765]
[ENSMUST00000127680]
[ENSMUST00000130664]
[ENSMUST00000185930]
[ENSMUST00000187881]
[ENSMUST00000189837]
[ENSMUST00000189932]
[ENSMUST00000190785]
|
| AlphaFold |
Q5DTW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046689
AA Change: S534P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: S534P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100765
AA Change: S534P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: S534P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189837
AA Change: S534P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: S534P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189932
AA Change: S534P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: S534P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190785
AA Change: S534P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: S534P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Meta Mutation Damage Score |
0.1297 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,311,619 (GRCm39) |
D1930N |
probably benign |
Het |
| Adam8 |
A |
G |
7: 139,564,720 (GRCm39) |
L667S |
probably damaging |
Het |
| Adcy4 |
A |
T |
14: 56,016,500 (GRCm39) |
I317N |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,872 (GRCm39) |
F102S |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,522,325 (GRCm39) |
W443R |
probably damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,229 (GRCm39) |
Y156* |
probably null |
Het |
| Bpifc |
C |
T |
10: 85,813,576 (GRCm39) |
V323I |
probably benign |
Het |
| Camp |
T |
G |
9: 109,676,577 (GRCm39) |
I149L |
probably benign |
Het |
| Cfap20dc |
T |
G |
14: 8,473,414 (GRCm38) |
|
probably null |
Het |
| Cibar2 |
A |
G |
8: 120,898,858 (GRCm39) |
I94T |
possibly damaging |
Het |
| Cnih1 |
A |
G |
14: 47,025,634 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,948,323 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,724 (GRCm39) |
D780V |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,084 (GRCm39) |
V442I |
probably benign |
Het |
| Fam83g |
G |
T |
11: 61,594,008 (GRCm39) |
S514I |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,864,969 (GRCm39) |
N93D |
probably benign |
Het |
| Fgf20 |
G |
T |
8: 40,734,153 (GRCm39) |
S76* |
probably null |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,100,401 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,798,195 (GRCm39) |
L800H |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,512,022 (GRCm39) |
S33T |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,456,072 (GRCm39) |
M743V |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,729,457 (GRCm39) |
N109D |
probably damaging |
Het |
| Hsd3b3 |
A |
G |
3: 98,660,621 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,387,591 (GRCm39) |
S370A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,028,103 (GRCm39) |
D1786E |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,597,534 (GRCm39) |
R27S |
possibly damaging |
Het |
| Il17rb |
G |
A |
14: 29,724,928 (GRCm39) |
A186V |
probably benign |
Het |
| Irak4 |
G |
T |
15: 94,449,691 (GRCm39) |
E57* |
probably null |
Het |
| Kcnh2 |
T |
A |
5: 24,536,921 (GRCm39) |
H221L |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,016,687 (GRCm39) |
N1149D |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,141,303 (GRCm39) |
H702R |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,514 (GRCm39) |
S1236P |
possibly damaging |
Het |
| Krt77 |
T |
A |
15: 101,773,910 (GRCm39) |
D248V |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,106 (GRCm39) |
N52S |
possibly damaging |
Het |
| Lhfpl6 |
T |
C |
3: 53,167,935 (GRCm39) |
Y170H |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,243 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,846,848 (GRCm39) |
I872T |
probably benign |
Het |
| Lrit3 |
T |
C |
3: 129,582,412 (GRCm39) |
E525G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,453 (GRCm39) |
T726A |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,813,283 (GRCm39) |
N46K |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,490,613 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
C |
8: 87,579,794 (GRCm39) |
N669K |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,257,739 (GRCm39) |
D26G |
probably benign |
Het |
| Neu4 |
G |
A |
1: 93,952,873 (GRCm39) |
S414N |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,212,935 (GRCm39) |
D336G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,954,509 (GRCm39) |
G3691V |
possibly damaging |
Het |
| Or4c52 |
A |
C |
2: 89,845,393 (GRCm39) |
I40L |
possibly damaging |
Het |
| Or5t17 |
A |
G |
2: 86,832,364 (GRCm39) |
N17S |
probably damaging |
Het |
| Pdgfd |
T |
A |
9: 6,288,627 (GRCm39) |
S94T |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,770 (GRCm39) |
H290R |
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,634 (GRCm39) |
L242Q |
probably damaging |
Het |
| Pou2f3 |
G |
T |
9: 43,050,635 (GRCm39) |
L242M |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,289,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,710,326 (GRCm39) |
S49G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,129 (GRCm39) |
L1626P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,702,939 (GRCm39) |
Y545C |
probably damaging |
Het |
| Rwdd4a |
A |
G |
8: 47,995,832 (GRCm39) |
T71A |
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,982,738 (GRCm39) |
F504L |
possibly damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,167,703 (GRCm39) |
T231A |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,377 (GRCm39) |
S468G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,310 (GRCm39) |
N697S |
probably benign |
Het |
| Spint1 |
T |
A |
2: 119,075,759 (GRCm39) |
V194E |
possibly damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,434,905 (GRCm39) |
M14K |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,608 (GRCm39) |
K2622E |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,338 (GRCm39) |
N614S |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,190 (GRCm39) |
C261S |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,727,373 (GRCm39) |
I44N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,502 (GRCm39) |
L17807P |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,873,492 (GRCm39) |
R121W |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,291 (GRCm39) |
H189L |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,212 (GRCm39) |
S761G |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,200,830 (GRCm39) |
K34* |
probably null |
Het |
| Zfp120 |
A |
T |
2: 149,959,964 (GRCm39) |
S141R |
possibly damaging |
Het |
| Zfp462 |
C |
G |
4: 55,010,253 (GRCm39) |
P740A |
probably benign |
Het |
|
| Other mutations in Resf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Resf1
|
APN |
6 |
149,236,248 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01401:Resf1
|
APN |
6 |
149,228,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01461:Resf1
|
APN |
6 |
149,233,013 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01610:Resf1
|
APN |
6 |
149,230,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02873:Resf1
|
APN |
6 |
149,228,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Resf1
|
APN |
6 |
149,227,937 (GRCm39) |
missense |
probably benign |
0.08 |
|
grand_junction
|
UTSW |
6 |
149,229,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
grand_marais
|
UTSW |
6 |
149,227,958 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Resf1
|
UTSW |
6 |
149,229,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
B6584:Resf1
|
UTSW |
6 |
149,230,844 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4280001:Resf1
|
UTSW |
6 |
149,227,023 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0053:Resf1
|
UTSW |
6 |
149,229,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0053:Resf1
|
UTSW |
6 |
149,229,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Resf1
|
UTSW |
6 |
149,227,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Resf1
|
UTSW |
6 |
149,229,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Resf1
|
UTSW |
6 |
149,227,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0727:Resf1
|
UTSW |
6 |
149,227,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0904:Resf1
|
UTSW |
6 |
149,229,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1221:Resf1
|
UTSW |
6 |
149,227,719 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1282:Resf1
|
UTSW |
6 |
149,230,670 (GRCm39) |
nonsense |
probably null |
|
|
R1435:Resf1
|
UTSW |
6 |
149,227,580 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1452:Resf1
|
UTSW |
6 |
149,228,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Resf1
|
UTSW |
6 |
149,228,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Resf1
|
UTSW |
6 |
149,230,342 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1926:Resf1
|
UTSW |
6 |
149,230,902 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1978:Resf1
|
UTSW |
6 |
149,227,930 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2035:Resf1
|
UTSW |
6 |
149,230,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2136:Resf1
|
UTSW |
6 |
149,230,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2333:Resf1
|
UTSW |
6 |
149,229,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Resf1
|
UTSW |
6 |
149,236,145 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3027:Resf1
|
UTSW |
6 |
149,230,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3121:Resf1
|
UTSW |
6 |
149,230,741 (GRCm39) |
nonsense |
probably null |
|
|
R3707:Resf1
|
UTSW |
6 |
149,230,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4204:Resf1
|
UTSW |
6 |
149,231,042 (GRCm39) |
nonsense |
probably null |
|
|
R4247:Resf1
|
UTSW |
6 |
149,227,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4249:Resf1
|
UTSW |
6 |
149,227,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4304:Resf1
|
UTSW |
6 |
149,227,736 (GRCm39) |
nonsense |
probably null |
|
|
R4385:Resf1
|
UTSW |
6 |
149,227,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4702:Resf1
|
UTSW |
6 |
149,230,901 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4747:Resf1
|
UTSW |
6 |
149,228,392 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4912:Resf1
|
UTSW |
6 |
149,230,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Resf1
|
UTSW |
6 |
149,230,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Resf1
|
UTSW |
6 |
149,229,896 (GRCm39) |
nonsense |
probably null |
|
|
R4971:Resf1
|
UTSW |
6 |
149,227,097 (GRCm39) |
unclassified |
probably benign |
|
|
R5077:Resf1
|
UTSW |
6 |
149,227,528 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5213:Resf1
|
UTSW |
6 |
149,227,551 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5382:Resf1
|
UTSW |
6 |
149,227,958 (GRCm39) |
nonsense |
probably null |
|
|
R5418:Resf1
|
UTSW |
6 |
149,227,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Resf1
|
UTSW |
6 |
149,230,611 (GRCm39) |
nonsense |
probably null |
|
|
R5498:Resf1
|
UTSW |
6 |
149,229,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5673:Resf1
|
UTSW |
6 |
149,229,491 (GRCm39) |
nonsense |
probably null |
|
|
R5690:Resf1
|
UTSW |
6 |
149,229,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5916:Resf1
|
UTSW |
6 |
149,228,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Resf1
|
UTSW |
6 |
149,236,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6160:Resf1
|
UTSW |
6 |
149,233,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6326:Resf1
|
UTSW |
6 |
149,230,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6396:Resf1
|
UTSW |
6 |
149,229,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Resf1
|
UTSW |
6 |
149,229,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6972:Resf1
|
UTSW |
6 |
149,227,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7127:Resf1
|
UTSW |
6 |
149,229,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7168:Resf1
|
UTSW |
6 |
149,229,341 (GRCm39) |
missense |
probably benign |
|
|
R7316:Resf1
|
UTSW |
6 |
149,228,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7586:Resf1
|
UTSW |
6 |
149,228,291 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7719:Resf1
|
UTSW |
6 |
149,228,853 (GRCm39) |
missense |
probably benign |
|
|
R7751:Resf1
|
UTSW |
6 |
149,226,936 (GRCm39) |
start gained |
probably benign |
|
|
R8013:Resf1
|
UTSW |
6 |
149,230,368 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8358:Resf1
|
UTSW |
6 |
149,228,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8393:Resf1
|
UTSW |
6 |
149,229,998 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8968:Resf1
|
UTSW |
6 |
149,228,664 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8977:Resf1
|
UTSW |
6 |
149,229,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8981:Resf1
|
UTSW |
6 |
149,227,997 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9106:Resf1
|
UTSW |
6 |
149,230,368 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9208:Resf1
|
UTSW |
6 |
149,228,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9294:Resf1
|
UTSW |
6 |
149,227,930 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9352:Resf1
|
UTSW |
6 |
149,236,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Resf1
|
UTSW |
6 |
149,228,132 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9513:Resf1
|
UTSW |
6 |
149,229,793 (GRCm39) |
nonsense |
probably null |
|
|
R9566:Resf1
|
UTSW |
6 |
149,227,352 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9623:Resf1
|
UTSW |
6 |
149,226,965 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9689:Resf1
|
UTSW |
6 |
149,229,766 (GRCm39) |
nonsense |
probably null |
|
|
R9752:Resf1
|
UTSW |
6 |
149,228,068 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9794:Resf1
|
UTSW |
6 |
149,228,239 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAATGACTGTTCCATGG -3'
(R):5'- ATCAACAGGCAGAGGAATCTC -3'
Sequencing Primer
(F):5'- GACTGTTCCATGGAATTGCTAGCAAC -3'
(R):5'- GCTGATATGTTATTACTTGCTACAGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation